ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_020822.3(KCNT1):c.2595-9C>T rs369966222 0.00015
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326 0.00006
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe) rs950983477 0.00004
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=) rs2131577612
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) rs917893164

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